Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
low density lipoprotein receptor-related protein 6
Synonyms:
ska26,  skax26,  skam26Jus Cd

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lrp6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lrp6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Lrp6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... OMIM:619868
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Insulin resistance, Hepatosplenomegaly, Splenom... OMIM:612526
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o... ORPHA:2839
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu... OMIM:306000
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis... ORPHA:369
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Hepatic fibrosis, Hepatic steatosis, Insulin-resistant di... ORPHA:280356
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Synophrys, Decreased testicular size, Cleft upper lip, Large hands, Preaxial han... ORPHA:85287
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-... ORPHA:363741
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma, Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger,... OMIM:216800
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Osteoporosis
Osteoporosis OMIM:166710
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Folliculitis, Inflammation of the large intestine, Splenomega... OMIM:300635
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Osteoarthritis, Cervical spondylosis OMIM:184300
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus OMIM:246650
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... OMIM:616278
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Absence of the sacrum, Spina bifida ORPHA:3169
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating... OMIM:278000
Orofaciodigital Syndrome Ix
Telecanthus, High palate, Abnormality of the dentition, Camptodactyly, Retinal coloboma, Hand pol... OMIM:258865
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Microphthalmia, Isolated 8
Short palpebral fissure, Microphthalmia, True anophthalmia, Entropion, Anophthalmia, Retinal deta... OMIM:615113
Acrodysplasia Scoliosis
Brachydactyly, Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Bresek Syndrome
Plagiocephaly, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, L... ORPHA:85284
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Macrocephaly, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal dental enamel morpho... ORPHA:2180
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Iris col... OMIM:244300
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... ORPHA:64754
Al Kaissi Syndrome
Brachycephaly, Postnatal growth retardation, High, narrow palate, Sacral dimple, Decreased head c... OMIM:617694
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ... OMIM:616828
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Coloboma, Cleft upper lip, Cleft palate, Tessier number 4 fac... OMIM:600251
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Rotor Syndrome
Jaundice, Abnormal circulating enzyme concentration or activity, Hyperbilirubinemia, Intermittent... ORPHA:3111
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormality of the ankle, Abnorma... ORPHA:163665
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Verheij Syndrome
Retrognathia, Short nose, Joint hypermobility, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, ... OMIM:615583
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di... OMIM:200990
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... ORPHA:2777
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi... ORPHA:1104
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Iniencephaly
Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-W... ORPHA:63259
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Skin rash, Splenomegaly, Conjunctivitis, Increased ... OMIM:603552
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Cirrhosis, Hyperinsulinemia, Mater... OMIM:604367
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Biliary Atresia, Extrahepatic
Cirrhosis, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin... OMIM:619256
Mmep Syndrome
Orofacial cleft, Microphthalmia, Triphalangeal thumb, Split foot, Cryptorchidism, Median cleft up... ORPHA:3434
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Cubitus valgus, Genu valgum, Delayed erupt... OMIM:265900
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the earlobes, Abnorma... ORPHA:2916
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... OMIM:613313
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, P... OMIM:231100
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes... OMIM:608600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Jaundice, Splenomegaly, Hepatomegaly OMIM:237800
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Insulin resistance, Hepatic steatosis, Insulin-resistant diab... ORPHA:79085
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Short palpebral fissure, Split foot, Cleft upper lip, Cleft pala... OMIM:601349
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Increased bone mineral density, Microdontia, Front... OMIM:190320
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Renal Agenesis, Bilateral
Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal... ORPHA:1848
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he... OMIM:607765
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoacidosis, Hepatic ste... OMIM:615238
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Genu valgum, Macrocephaly, Low hanging columella, Mandibular progna... OMIM:619721
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... OMIM:311895
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating al... OMIM:613812
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Joubert Syndrome 15
Preaxial polydactyly, Retinal dystrophy, Coloboma, Retinopathy, Micropenis, Ambiguous genitalia, ... OMIM:614464
Frontonasal Dysplasia 1
Joint contracture of the hand, Microphthalmia, Radial deviation of finger, Pectoral muscle hypopl... OMIM:136760
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Highly arched eyebrow, Microtia, Microcephaly, Delayed ske... ORPHA:1327
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic trans... OMIM:235555
Acalvaria
Talipes, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypo... ORPHA:945
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hypoplastic fingernail, Wide anterior fontanel... OMIM:113000
Microphthalmia/Coloboma 4
Orbital cyst, Coloboma, Microphthalmia OMIM:251505
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Slender long bone, Limitation of joint mobility, Hypoplastic pelvis, Sacroc... ORPHA:2840
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydact... OMIM:615983
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Coloboma, Amelia, Cleft upper lip,... OMIM:601357
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma, Microphthalmia, Absent testis OMIM:613094
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Highly arched eyebrow, Microcephaly, Enamel agenesis, Long philtrum, Anteverted nares, Hemiverteb... OMIM:614701
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Increas... ORPHA:890
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Coloboma, Abnormal oral frenulum morphology, Bullet-shaped distal... ORPHA:1617
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure, Unconjugated ... OMIM:143500
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae ORPHA:1436
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... OMIM:618469
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Hydrocephalus, Sh... OMIM:613686
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Narrow palpebral fissure, Microphthalmia, Retinal coloboma, Horizontal eyebrow, Downturned corner... OMIM:618571
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accessory oral frenul... ORPHA:2756
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Lacrimal d... DECIPHER:46
Spondylocostal Dysostosis 5
Butterfly vertebrae, Syringomyelia, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Sup... OMIM:122600
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Long philtrum, Small hypothenar emin... OMIM:211960
Non-Distal Duplication 10Q
Brachycephaly, Short nose, Low-set, posteriorly rotated ears, Scoliosis, High palate, Everted low... ORPHA:1695
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Recu... OMIM:620357
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hypospadias, Hydrocephalus, Coloboma, Hypogonadism, Hypogon... ORPHA:141333
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis... ORPHA:177
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Cranioectodermal Dysplasia
Rhizomelia, Joint hypermobility, Prominent occiput, Abnormal dental enamel morphology, Anteverted... ORPHA:1515
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Meningocele, Abnormal form of the ... ORPHA:2311
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Abnormal palate morphology, Alopecia of scalp, Reduced bone mineral de... ORPHA:2617
Momo Syndrome
Long foot, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Retinal coloboma, S... OMIM:157980
Intellectual Developmental Disorder, Autosomal Dominant 1
Retrognathia, Highly arched eyebrow, Microtia, Everted lower lip vermilion, Microdontia, Low post... OMIM:156200
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... ORPHA:521308
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Cleft upper li... OMIM:613885
Acrofacial Dysostosis, Palagonia Type
Abnormal form of the vertebral bodies, Delayed skeletal maturation, Unilateral cleft lip, Sparse ... ORPHA:1787
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Biliary cirrh... OMIM:620454
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, Cryptorchidism, Ankyloblepharon ORPHA:1074
Trigonocephaly 1
Short nose, High, narrow palate, Lumbar hemivertebrae, Metopic synostosis, Synophrys, Trigonoceph... OMIM:190440
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Ascites, Poly... OMIM:174050
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Supernumerary tooth, Delayed puberty, Agenesis of molar, Bicoronal synostosis, Scolio... OMIM:619718
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... OMIM:619481
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... OMIM:184705
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Intellectual Disability, Wolff Type
Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Non-midl... ORPHA:3080
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia, Hepatomegaly OMIM:618881
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Eleva... OMIM:616860
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Anencephaly, Hydrocephalus, Short ribs, Micromelia, Postaxial polydactyly, ... OMIM:616546
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Insulin r... ORPHA:435660
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hepatic failure, Cholelithiasis, Eczematoid dermatitis OMIM:177000
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Microphthalmia, Abnormal pinna morphology, Stippled calcification in carpal bones... OMIM:302960
Joubert Syndrome With Ocular Defect
Orofacial cleft, Aganglionic megacolon, Encephalocele, Retinal dystrophy, Hydrocephalus, Highly a... ORPHA:220493
Three M Syndrome 1
Increased vertebral height, Clinodactyly of the 5th finger, Spina bifida occulta, Slender long bo... OMIM:273750
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev... OMIM:615381
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Pr... OMIM:614120
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Scoliosis, Coxa vara, Ovoid ... OMIM:184255
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat... ORPHA:247585
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Spina bifida occulta, Single transverse palmar crease, Scoliosis, ... OMIM:618291
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Hydrocephalus, Protruding tongue, Bifid uvula, Cleft palate, Brachydactyly... OMIM:612938
Coffin-Siris Syndrome 3
Microcephaly, Delayed skeletal maturation, Wide mouth, Umbilical hernia, Joint hypermobility, Lon... OMIM:614608
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Oste... OMIM:606069
Aarskog-Scott Syndrome
Everted lower lip vermilion, Umbilical hernia, Long philtrum, Abnormality of the dentition, Short... ORPHA:915
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Short ribs, Postaxial hand polydactyly, Micromelia, Micro... OMIM:241800
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Syndactyly ORPHA:294975
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Duane-Radial Ray Syndrome
Microphthalmia, Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absen... OMIM:607323
Bardet-Biedl Syndrome 4
Polydactyly, External genital hypoplasia, Abnormality of the dentition, Syndactyly, Brachydactyly... OMIM:615982
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Short clavicles, Hypoplastic acetabulae, Hy... OMIM:169550
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Neuronal Intranuclear Inclusion Disease
Optic atrophy, Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Short philtrum, Prominent fingertip pads, High palate, Camptodact... OMIM:300963
Bardet-Biedl Syndrome 11
Polydactyly, Retinopathy, Hypogonadism OMIM:615988
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Macrocephaly, Genu recurvatum, Anteverted nares, Scoliosi... OMIM:300602
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic stea... ORPHA:363400
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chorioretinal coloboma... OMIM:611638
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hartsfield Syndrome
Microphthalmia, Encephalocele, Telecanthus, Non-midline cleft of the upper lip, Split hand, Lobar... ORPHA:2117
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Microcephaly, Craniosynostosis, Cervical spinal canal stenosis, Tarsal synosto... OMIM:178110
Oculomaxillofacial Dysostosis
Tessier cleft, Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morpholog... ORPHA:1794
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Euryblepharon, Anal atresia, Distichiasis, Cleft upper lip, Ec... OMIM:119580
Difference Of Sex Development-Intellectual Disability Syndrome
Reduced bone mineral density, Genu valgum, Spina bifida occulta, Short thorax, Kyphosis, Short neck ORPHA:2983
Fountain Syndrome
Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of the vertebral bodies, Cran... ORPHA:3219
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Poland Syndrome
Hypoplasia of deltoid muscle, Hemivertebrae, Short ribs, Unilateral oligodactyly, Sprengel anomal... OMIM:173800
Doors Syndrome
Bilateral ptosis, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abno... ORPHA:79500
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Hepatic steatosis, Insulin-resistant diabetes m... ORPHA:435651
Ritscher-Schinzel Syndrome 1
Brachycephaly, Prominent occiput, Hydrocephalus, Hemivertebrae, Low-set ears, Low posterior hairl... OMIM:220210
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Recurrent sinusitis, Hepatosplenomegaly, Splenomegaly, Increased circulatin... OMIM:613101
Winchester Syndrome
Carpal osteolysis, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis involving ta... OMIM:277950
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Sacral dimple, Low hanging columella, Hemivertebrae, Hirsutism, Unilate... OMIM:619318
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... ORPHA:314811
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Telecanthus, Ethmoidal encephalocel... OMIM:607597
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Short ... ORPHA:71267
Intellectual Disability, Birk-Barel Type
High, narrow palate, Sacral dimple, Limited elbow flexion/extension, Protruding ear, Short philtr... ORPHA:166108
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Proximal 16P11.2 Microduplication Syndrome
Scoliosis, Hemivertebrae, Microtia, Sparse eyelashes, Frontal bossing, Sparse eyebrow, Microcepha... ORPHA:370079
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Short philtrum, Delayed eruption of teeth, Genu recurvatum, Prematur... ORPHA:137834
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:264580
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... OMIM:619013
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Cleft palate, Short foot, Small hand OMIM:300261
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Kbg Syndrome
Persistent open anterior fontanelle, Delayed skeletal maturation, Microcephaly, Long philtrum, An... ORPHA:2332
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Left ... OMIM:619048
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Filippi Syndrome
Postnatal growth retardation, Thin vermilion border, Short philtrum, Low hanging columella, Serra... OMIM:272440
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Low posterior hairline, Microcephaly, Recurrent sinusitis, Joint hypermobi... OMIM:213980
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Ectropion, Abnormal metaca... ORPHA:3258
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the philtrum, Hemivertebrae, Overfolded hel... ORPHA:2759
Cenani-Lenz Syndactyly Syndrome
Metacarpal synostosis, Scoliosis, Hemivertebrae, Enamel hypoplasia, Micrognathia, Malar flattenin... OMIM:212780
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Lenz-Majewski Hyperostotic Dwarfism
Sensorineural hearing impairment, Relative macrocephaly, Microcephaly, Delayed skeletal maturatio... OMIM:151050
Cerebrofaciothoracic Dysplasia
Brachycephaly, Short nose, Macrocephaly, Low-set, posteriorly rotated ears, Wide nose, Scoliosis,... ORPHA:1394
Coach Syndrome 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic fibrosis, Conge... OMIM:619111
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Hyperinsulinemia, Increased ... ORPHA:528
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Macrocephaly, Scoliosis, High palate, Low-set ears, Prominent nose, Enamel h... OMIM:618205
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate OMIM:236110
Orofaciodigital Syndrome Viii
Polydactyly, Telecanthus, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Congenital Disorder Of Deglycosylation 2
Sandal gap, Genu recurvatum, Highly arched eyebrow, High palate, Bilateral talipes equinovarus, B... OMIM:619775
Femoral-Facial Syndrome
Abnormal fibula morphology, Polycystic kidney dysplasia, Scoliosis, Vertebral segmentation defect... ORPHA:1988
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Kleefstra Syndrome 1
Hypospadias, Talipes equinovarus, Single transverse palmar crease, Upslanted palpebral fissure, E... OMIM:610253
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co... ORPHA:33402
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Patchy alopecia, Kyphosis, Poliosis, ... OMIM:141300
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Developmental And Epileptic Encephalopathy 80
Triphalangeal thumb, High palate, Optic disc pallor, Protruding tongue, Short distal phalanx of f... OMIM:618580
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Momo Syndrome
Brachycephaly, Bilateral microphthalmos, Thick lower lip vermilion, Abnormal bone ossification, W... ORPHA:2563
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Single transverse palm... OMIM:201170
Temtamy Syndrome
Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Clinodactyly of the 5th fi... ORPHA:1777
3C Syndrome
Postnatal growth retardation, Orofacial cleft, High, narrow palate, Short nose, Macrocephaly, Hyp... ORPHA:7
Schisis Association
Anencephaly, Encephalocele, Anal atresia, Micromelia, Spina bifida, Tracheoesophageal fistula, Cl... ORPHA:63862
Cofs Syndrome
Microphthalmia, Sensorineural hearing impairment, Everted lower lip vermilion, Prominent metopic ... ORPHA:1466
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent sinusitis, Splenomegaly, Bronchiectasis OMIM:620282
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delay... ORPHA:166024
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Clinodactyly of the 5th finger, Spondylolisthesis, Sandal gap, Spina bifida occulta, ... OMIM:617877
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased lecithin cholesterol acyl transferase level, Decreased HDL choles... OMIM:245900
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hyperlipidemia OMIM:617885
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Osteopenia, Platyspondyly, Webbed neck, Delayed eruption of teeth, Dislocated rad... OMIM:612350
Zechi-Ceide Syndrome
Short palpebral fissure, Long foot, Short metatarsal, Sandal gap, Oligodontia, Cleft upper lip, C... OMIM:612916
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Wrist flexion contracture, Bifid uvula, Adducted thumb, Pursed lips, Elbow fl... OMIM:619110
Braddock Syndrome
Scoliosis, Hemivertebrae, Short stature, Micrognathia, Abnormal hair pattern, Posteriorly rotated... ORPHA:52047
Ring Chromosome 22 Syndrome
Azoospermia, 2-3 toe syndactyly, Protruding tongue, Large hands, Thick eyebrow, Thick vermilion b... ORPHA:1446
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Short palpebral fissure, Oligodactyly, Narrow mouth, Forearm... OMIM:251230
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Diabetes mellitus, Hepatic steatosis, Membranoprolifera... OMIM:608709
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic cholestasis, ... OMIM:214950
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... ORPHA:3352
Joubert Syndrome 1
Retinal dysplasia, Retinal dystrophy, Highly arched eyebrow, Postaxial hand polydactyly, Optic di... OMIM:213300
Terminal Osseous Dysplasia
Mesomelic arm shortening, Telecanthus, Abnormal hand bone ossification, Abnormality of the lower ... OMIM:300244
Hall-Riggs Syndrome
Thick hair, Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Scol... ORPHA:2107
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Pierpont Syndrome
Deep plantar creases, Microphthalmia, Prominent fingertip pads, Everted lower lip vermilion, Broa... OMIM:602342
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma OMIM:120433
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Pierpont Syndrome
Brachycephaly, Thin vermilion border, Microphthalmia, Widely spaced teeth, High anterior hairline... ORPHA:487825
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Macrocephaly, Delayed eruption of teeth, Low hanging columella, Dental crowding, Scoliosis, Antev... OMIM:618825
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Abnormal optic disc morphology, Broad thumb, Long philtru... ORPHA:508498
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal circulating enzym... ORPHA:79319
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Thin vermilion border, Microphthalmia, Death in childhood, Delayed eruption of te... OMIM:214150
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Supernumerary tooth, Protruding ear, Dental crowding, Scoliosis, Pear-shaped nose, Bu... OMIM:190351
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Anteverted nares, Sensorineural hearing impairme... OMIM:166750
Smith-Magenis Syndrome
Chronic otitis media, Delayed puberty, Abnormal form of the vertebral bodies, Joint stiffness, Mi... ORPHA:819
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Oculodentodigital Dysplasia
Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, Abnormal pinna morpho... OMIM:164200
Bartsocas-Papas Syndrome 1
Ectropion, Microphthalmia, Hypoplastic labia majora, Hypoplastic iliac wing, Oligodactyly, Short ... OMIM:263650
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, ... OMIM:605479
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Autosomal Dominant Robinow Syndrome
Retrognathia, Abnormal form of the vertebral bodies, Severe short stature, Umbilical hernia, Long... ORPHA:3107
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i... OMIM:613849
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, Low hanging columella, Highly arched eyebrow, Hi... OMIM:613684
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Odonto-Onycho Dysplasia-Alopecia Syndrome
Tooth malposition, Microdontia, Tooth agenesis, Abnormal dental morphology, Sparse body hair, Spa... ORPHA:2722
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Cleidocranial Dysplasia
Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal... ORPHA:1452
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Anophthalmia, Anteverted nares, Prominent ear helix, Everted lower lip vermilion,... ORPHA:411986
Odontochondrodysplasia
Retrognathia, Short nose, Delayed eruption of teeth, Scoliosis, Death in infancy, Short stature, ... ORPHA:166272
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:158057
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Sp... ORPHA:79083
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Hypogonadism, Rod-cone dyst... OMIM:615984
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure OMIM:261650
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia... OMIM:614300
Bardet-Biedl Syndrome 10
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Hypogonadism OMIM:615987
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Highly arch... OMIM:216100
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Meckel Syndrome 13
Occipital encephalocele, Micrognathia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Micrognathia, Cleft palate, Neonatal death, Broad nas... OMIM:615524
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Single transverse palmar crease, Prominent fingertip pads, High palate, Everted lower lip vermili... OMIM:617804
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Increased blood urea nitrogen, Elevated circulating creatinine concen... OMIM:617872
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Postaxial hand polydactyly, Cleft... OMIM:615948
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp... OMIM:617093
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Turricephaly, Kyphosis, Joint stiffness, Microcephaly, Severe short stature, Sparse hair, Intraut... ORPHA:1005
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb... OMIM:253000
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Sacral dimple, Anencephaly, Dandy-Walker malfor... OMIM:614175
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Macrocephaly, Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated ... ORPHA:2025
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Decreased hip abductio... OMIM:609223
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Pannicul... ORPHA:79086
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic nerve hypoplasia, ... OMIM:618736
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Monosomy 18P
Kyphoscoliosis, Microphthalmia, Low posterior hairline, Microcephaly, Short philtrum, Tooth malpo... ORPHA:1598
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Scoliosis, Vertebral segmentation defect ORPHA:1570
Mosaic Trisomy 9
Microphthalmia, Webbed neck, Prominent occiput, Small nail, Scoliosis, Hemivertebrae, High palate... ORPHA:99776
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... OMIM:201000
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Trisomy 4P
Abnormal palate morphology, Radial club hand, Low-set, posteriorly rotated ears, Abnormal antihel... ORPHA:1738
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Osteoglosphonic Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Anteverted nares, ... ORPHA:2645
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Cirrhosis, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Hepatic fib... OMIM:602579
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hypotrichosis 1
Abnormality of the nail, Abnormality of the dentition, Sparse eyelashes, Sparse body hair, Sparse... OMIM:605389
Poland Syndrome
Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab... ORPHA:2911
Pallister-Hall Syndrome
Microphthalmia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora, Retinal coloboma, Iris coloboma ORPHA:2328
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... ORPHA:412
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Perianal abscess, Jaundice, Increased circulating chylomicron concentration... ORPHA:444490
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypospadias, Unilateral cleft lip, Epicanthus, Brachydactyly ORPHA:1919
Bruck Syndrome 1
Ankle flexion contracture, Vertebral wedging, Pectus carinatum, Scoliosis, Elbow flexion contract... OMIM:259450
Hallermann-Streiff Syndrome
Microphthalmia, Hyperlordosis, Everted lower lip vermilion, Microcephaly, Thin calvarium, Sparse ... OMIM:234100
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, High anterior hairline, Widely spaced teeth, Medial flaring of the eyebrow, Anteve... OMIM:617364
Warburg Micro Syndrome 1
Kyphoscoliosis, Thin vermilion border, Microphthalmia, Facial hypertrichosis, Anteverted nares, N... OMIM:600118
Brachyolmia Type 2
Platyspondyly OMIM:613678
Acrocraniofacial Dysostosis
Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Spina bifida occulta, Abnormal fo... ORPHA:949
Joubert Syndrome 18
Kyphoscoliosis, Occipital encephalocele, Molar tooth sign on MRI, Bowing of the long bones, Campt... OMIM:614815
Acrofrontofacionasal Dysostosis
Hypospadias, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Bifid ... ORPHA:1784
Lowry-Maclean Syndrome
Craniosynostosis, Delayed eruption of teeth, Microcephaly, Cleft palate, Intrauterine growth reta... OMIM:600252
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... OMIM:262400
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Prolonged neonatal jaundice, Decrease... ORPHA:199296
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Micrognathia, Mesomelia... ORPHA:1277
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder mor... ORPHA:1350
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Codas Syndrome
Short nose, Midline defect of the nose, Abnormal form of the vertebral bodies, Delayed eruption o... ORPHA:1458
Incontinentia Pigmenti
Kyphoscoliosis, Nail dysplasia, Microphthalmia, Nail dystrophy, Ridged nail, Microcephaly, Sparse... OMIM:308300
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Retinal coloboma OMIM:107550
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft palate, Microg... OMIM:249710
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly, Thin vermilion border, Spinal rigidity, Abnormal intervertebral disk morphology, S... ORPHA:2062
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Hydrocephalus, Pos... OMIM:252100
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Kyphosis, Microcephaly, Wide mouth, Umbilical hernia, Intrauterine growth ... OMIM:615834
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Achilles ten... OMIM:619719
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Thick lower lip vermilion, Radial deviation of finger, Hypospadias, Talipes equinovarus, Absent f... OMIM:301040
Bartsocas-Papas Syndrome
Popliteal pterygium, Ambiguous genitalia, Talipes, Sparse or absent eyelashes, Finger syndactyly,... ORPHA:1234
Joubert Syndrome 16
Polydactyly, Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Atopic dermatitis, Splenomegaly, Increased circulating ferrit... OMIM:620603
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Rhombencephalosynapsis, Abnormal midbrain... ORPHA:280195
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Turricephaly, Severe postnatal growth retardation, Alopecia, Thoracic kyphoscoliosis, Prominent n... OMIM:203550
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Charlie M Syndrome
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... ORPHA:1406
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Reduced bone mineral density, Cubitus valgus, Spina bifida occulta, Slender long b... ORPHA:1185
Robinow Syndrome, Autosomal Recessive 1
Nail dysplasia, Retrognathia, Hypoplastic sacrum, Small nail, Dislocated radial head, Dental crow... OMIM:268310
Robinow Syndrome
Kyphoscoliosis, Nail dysplasia, Mixed hearing impairment, Small nail, Broad alveolar ridges, Dent... ORPHA:97360
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Platyspondyly, Sclerotic vertebral endplates, Enlarged metacarpophalangeal joints... OMIM:208230
Baraitser-Winter Syndrome 1
Orofacial cleft, Microphthalmia, Highly arched eyebrow, Duplication of phalanx of hallux, Cleft u... OMIM:243310
48,Xxyy Syndrome
Chronic otitis media, Flat occiput, Thick lower lip vermilion, Broad jaw, Delayed eruption of tee... ORPHA:10
Aredyld Syndrome
Advanced eruption of teeth, Low-set, posteriorly rotated ears, Craniofacial hyperostosis, Abnorma... ORPHA:1133
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Scoliosis, Shor... OMIM:222600
Tetrasomy 12P
Short nose, Joint hypermobility, Delayed eruption of teeth, Abnormal soft palate morphology, Ante... ORPHA:884
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Macrocephaly, Abnormally large globe, Dental crowding, M... OMIM:269300
ERI1-related disease
Limited elbow extension, Osteopenia, Increased vertebral height, Clinodactyly of the 5th finger, ... OMIM:608739
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Mandibular prognathia, Scoliosis, Kyphosis, Hearin... ORPHA:90322
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Wide nasal base, Delayed eruption of teeth, Dental crowding, Scoliosis, Anteverte... OMIM:616354
Anauxetic Dysplasia 2
Nail dysplasia, Cubitus valgus, Small nail, Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical... OMIM:617396
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Leukonychia, Protruding ear, Long upper lip, Hyperlordosis, High palate, Abn... ORPHA:77258
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Low-set ears, Microcephaly, Frontal bos... OMIM:617661
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma, Umbilical hernia ORPHA:2196
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczematoid dermatitis OMIM:176090
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Autosomal Recessive Amelia
Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, Amelia involving the up... ORPHA:1027
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Accessory oral frenulum, Short philtrum, Single tr... OMIM:617927
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Distal Monosomy 7Q36
Bilateral single transverse palmar creases, Optic atrophy, Clinodactyly of the 5th finger, Hypopl... ORPHA:1636
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Hyperlordosis, Bifid uvula, Severe short stature, Increased bone mineral density, S... ORPHA:2780
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,... OMIM:605911
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Microphthalmia, Abnormal bone ossification, Flat acetabular roof,... ORPHA:163649
Maternal Hyperthermia-Induced Birth Defects
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... ORPHA:2216
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Cervical myelopathy, Irregular epiphyses, Geographic atrophy, Irregular dentiti... OMIM:619260
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... ORPHA:2437
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Ectrodactyly, Tooth agenesis, Cryptorchidism, Cleft upper lip, Cleft palate, Hypogonadotropic hyp... OMIM:147950
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Scoliosis, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Fl... OMIM:156530
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Optic disc pallor, Spina bifida occulta OMIM:615281
Craniolenticulosutural Dysplasia
Decreased skull ossification, Microdontia, Wide mouth, Sparse hair, Long philtrum, Joint hypermob... ORPHA:50814
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Hypera... OMIM:617049
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Pear-shaped nose, Intrauterine growth retardation, Microcephaly, Interphalangeal joint contractur... OMIM:606242
Primary Biliary Cholangitis